Mice that are heterozygous for the Rpsatm1Ells, ribosomal protein SA, targeted mutation exhibit a signficantly lower mean corpuscular hemoglobin concentration (MCHC) when treated with a myelosuppressor. This mutant mouse strain may be useful in studies of Diamond Blackfan anemia.
Steven R Ellis, University of Louisville
Mice that are heterozygous for the targeted mutation are viable, fertile, and do not display any gross behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 3.5. Heterozygotes exhibit delayed embryonic growth that normalizes postnatally. On a mixed B6;129 background some cranifacial defects are observed. These abnormalities were no longer observed after the fourth generation backcross (N4) onto the C57BL/6 background. Mean corpuscular hemoglobin concentration (MCHC) is significantly lower in heterozygotes treated with myelosuppressor, Fluorouracil (5-FU), when compared to wild-type controls. Heterozygotes display slightly decreased insulin content in pancreatic islet cells, but have normal glucose tolerance, insulin senstivity and insulin secretion. A significant reduction of gene product (mRNA) is detected by Northern blot analysis of embryonic liver and MEFs isolated from heterozygotes. The MEFs exhibit a delayed production of 18S rRNA. This mutant mouse strain may be useful in studies of Diamond Blackfan anemia.
A targeting vector containing the neomycin resistance gene was used to disrupt exons 1-4. The construct was electroporated into 129S6/SvEvTac derived iTL1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric animals were crossed to C57BL/6J mice, and then backcrossed to C57BL/6 for nine generations.
|Allele Name||targeted mutation 1, Steven Ellis|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Rpsa, ribosomal protein SA|
|Strain of Origin||129S6/SvEvTac|
|Molecular Note||A targeting vector containing the neomycin resistance gene was used to disrupt exons 1-4. The construct was electroporated into 129S6/SvEvTac derived iTL1 embryonic stem (ES) cells.|
|Mutations Made By|| |
Steven Ellis, University of Louisville
When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes have an embryonic lethal phenotype, failing to develop past embryonic days 3.5.
When using the B6.129S6-Rpsatm1Ells/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008369 in your Materials and Methods section.